Tay-Sachs Disease
Tay-Sachs disease is a rare genetic disorder caused by a deficiency in an enzyme that helps break down fatty substances in the brain and nerve cells. This leads to the accumulation of harmful compounds, resulting in progressive neurological damage. Typically, symptoms appear in infants around six months old and can include loss of motor skills, vision and hearing loss, and eventually severe disabilities. Tay-Sachs is most common in certain ethnic groups, such as Ashkenazi Jews. There is currently no cure, and the focus is on supportive care and management of symptoms. Genetic testing can help identify carriers of the disease.
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Tay-Sachs disease is a rare genetic disorder caused by a deficiency of an enzyme called hexosaminidase A, which is responsible for breaking down fatty substances in the body. Without this enzyme, harmful levels of a fatty substance called GM2 ganglioside build up in the nerve cells, leading to progressive neurological damage. Symptoms typically appear in infancy and can include developmental delays, muscle weakness, seizures, and vision loss. There is currently no cure, and most affected children do not survive past early childhood. Tay-Sachs is more common in individuals of Ashkenazi Jewish descent, but it can affect people of any background.